COL4A2 wt Allele

Preferred Label : COL4A2 wt Allele;

NCIt synonyms : ICH; FLJ22259; POREN2; Collagen Type IV Alpha 2 Chain wt Allele; COL4A2; Collagen of Basement Membrane, Alpha-2 Gene; DKFZp686I14213; Collagen, Type IV, Alpha-2 Gene;

NCIt definition : Human COL4A2 wild-type allele is located in the vicinity of 13q34 and is approximately 207 kb in length. This allele, which encodes collagen alpha-2(IV) chain protein, is involved in basement membrane collagen structures. Mutation of the gene is associated with porencephaly 2 and increased susceptibility for intracerebral hemorrhage.;

NCI Metathesaurus CUI : CL554185;

GenBank Accession Number : AK025912;

Details

Origin ID

C152982;

UMLS CUI

C4724060;

Automatic exact mappings (from CISMeF team)
- Brain small vessel disease 2 [OMIM Phenotype]
- Collagen, type iv, alpha-2 [OMIM gene]
- Hemorrhage, intracerebral, susceptibility to [OMIM Phenotype]
- collagen type IV alpha 2 chain [ORDO Gene]
OMIM relation
- Collagen, type iv, alpha-2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q34 [NCIt concept]
gene_is_element_in_pathway
- Acute Myocardial Infarction Pathway [NCIt concept]
- Amoebiasis Pathway [NCIt concept]
- Angiotensin-converting Enzyme 2 Pathway [NCIt concept]
- Bone Mineralization Regulation Pathway [NCIt concept]
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
- Platelet Amyloid Precursor Protein Pathway [NCIt concept]
- Small Cell Lung Cancer Pathway [NCIt concept]
- Syndecan-1-Mediated Signaling Pathway [NCIt concept]
- Vitamin C in Brain Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients